MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype

M. Yu, K. Honoki, J. Andersen, E. Paietta, D. K. Nam, J. J. Yunis

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Rearrangement of the MLL (myeloid-lymphoid or mixed-lineage leukemia) gene through a reciprocal chromosomal translocation is found in 5% of adult acute myeloid (AML) and 10% of pediatric acute lymphoid (ALL) leukemia. More than 25 different reciprocal chromosomal translocations, with an 11q23 breakpoint, fuse the MLL gene (also named ALL-1, HRX and Htrx1) to a second partner gene. These leukemias have poor prognosis and frequently have a monocytic, lymphoid or biphenotypic (myeloid and lymphoid) antigen expression in blast cells. Approximately 20-30% of patients diagnosed as having adult de novo AML have normal chromosomes by metaphase analysis and the majority of these patients have good prognosis. With the use of reverse transcriptase-polymerase chain reaction (RT-PCR) technique and Southern blot analysis, we found that seven of 34 such patients (21%) had a tandem partial duplication of exons 2 to 6 or 2 to 8 of the MLL gene. These seven patients showed a median survival of 2.7 months, compared to a 6.8 months median survival for all other patients in the study. If confirmed on a large series of patients, our findings may help differentiate AML with normal karyotype and poor prognosis from those with normal karyotype and a more favorable prognosis.

Original languageEnglish (US)
Pages (from-to)774-780
Number of pages7
Issue number5
StatePublished - May 1996


  • Acute leukemia
  • Karyotype
  • MLL
  • Prognosis
  • Tandem duplication

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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